49, XXXXX

(Redirected from Pentasomy X)
Jump to navigation Jump to search
49, XXXXX
ICD-10 Q97.1
DiseasesDB 32625

WikiDoc Resources for 49, XXXXX

Articles

Most recent articles on 49, XXXXX

Most cited articles on 49, XXXXX

Review articles on 49, XXXXX

Articles on 49, XXXXX in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on 49, XXXXX

Images of 49, XXXXX

Photos of 49, XXXXX

Podcasts & MP3s on 49, XXXXX

Videos on 49, XXXXX

Evidence Based Medicine

Cochrane Collaboration on 49, XXXXX

Bandolier on 49, XXXXX

TRIP on 49, XXXXX

Clinical Trials

Ongoing Trials on 49, XXXXX at Clinical Trials.gov

Trial results on 49, XXXXX

Clinical Trials on 49, XXXXX at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on 49, XXXXX

NICE Guidance on 49, XXXXX

NHS PRODIGY Guidance

FDA on 49, XXXXX

CDC on 49, XXXXX

Books

Books on 49, XXXXX

News

49, XXXXX in the news

Be alerted to news on 49, XXXXX

News trends on 49, XXXXX

Commentary

Blogs on 49, XXXXX

Definitions

Definitions of 49, XXXXX

Patient Resources / Community

Patient resources on 49, XXXXX

Discussion groups on 49, XXXXX

Patient Handouts on 49, XXXXX

Directions to Hospitals Treating 49, XXXXX

Risk calculators and risk factors for 49, XXXXX

Healthcare Provider Resources

Symptoms of 49, XXXXX

Causes & Risk Factors for 49, XXXXX

Diagnostic studies for 49, XXXXX

Treatment of 49, XXXXX

Continuing Medical Education (CME)

CME Programs on 49, XXXXX

International

49, XXXXX en Espanol

49, XXXXX en Francais

Business

49, XXXXX in the Marketplace

Patents on 49, XXXXX

Experimental / Informatics

List of terms related to 49, XXXXX

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]

}

Overview

XXXXX syndrome (also called pentasomy X or 49,XXXXX) is the presence of three additional X chromosomes. Diagnosis is done by karyotyping. Approximately 25 females have been described in medical literature worldwide with this extremely rare condition. The condition was first described in 1963.

Effects

Physical traits

XXXXX syndrome is associated with microcephaly (undersized head), micrognathia (undersized jaw), and round face. The ears are generally low-set and malformed. Eyes are upslanting and show palpebral fissures, hypertelorism, and strabismus. Usually the nose is shaped with a broad and depressed nasal bridge and epicanthus, with the mouth having a cleft palate, highly arched palate, dental abnormalities, and thick, furrowed, and everted lips. The neck is webbed, much like the underarms of a woman with Turner's Syndrome. The hands and feet are small with overlapping toes, camptodactyly, clinodactyly, talipes equinovarus, and metatarsus varus. Scoliosis generally affects the spine and hypotonia affects the muscles.

Internal organs

The heart is usually affected by patent ductus arteriosus, atrial septal defect, ventricular septal defect, and aortic dextroposition. There is abnormal lobulation of the lungs and neonatal asphyxia. The ovaries are abnormally shaped with a small uterus and kidney hypoplasia.

Growth and development

XXXXX syndrome causes mental, growth, and motor retardation. There is occasional delayed puberty. Behavior and performance is affected by Opisthotonoid posture. The 'rule of thumb' states that there will be a 10 to 15 IQ point decrease for each extra X chromosome. Thus, the average IQ would be between 55 and 70.[1].

References

Template:Chromosomal abnormalities

Template:WH Template:WS